Utilizing Augmented Artificial Intelligence for Aminoacidopathies

Aga Khan University Hospital, Pakistan

Status: Completed

Conditions: Inborn Errors of Metabolism

Treatments: Diagnostic Test: Plasma amino acid assay

Study type: Observational

Funder types: Other

Identifiers

NCT05437445

ERC # 2019-1709-4536

Details and patient eligibility

About

The objective of the study was to interpret metabolic profiles of plasma amino acid (PAA) and compare reference intervals (RI) of PAA data from Pakistan with data from other countries using Clinical Laboratory Integrated Reports (CLIR). One-year data (reference and cases data) of twenty-two PAA, analyzed by ion exchange high performance chromatography at Biochemical Genetics Laboratory (BGL) of Aga Khan University Pakistan, was compiled in a comma-separated values (.csv) file and uploaded on CLIR Software using AAQP (Amino Acid in Plasma) application for statistical analysis. Among total of 2081 PAA profiles, 92% (n=1913) were completely normal with all PAA values falling within the age-specific reference range. A concordance of 98.8% was noted between the reporting done by the BGL at AKU and then after applying CLIR tools.

Enrollment: 2,081 patients

Sex: All

Ages: 1 to 16 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

All plasma samples during 1 year received at Biogenetic Lab

Exclusion criteria

Subjects with age greater than 16 years

Trial design

2,081 participants in 1 patient group

Cases Data

Description:

subjects having abnormal plasma amino acid profiles with either one or more amino acid concentrations beyond (high or low) the locally defined age-specific reference ranges

Treatment:

Diagnostic Test: Plasma amino acid assay